Annotation Detail

Information
Associated Genes
CYP19A1
Associated Variants
CYP19A1 MUTATION
CYP19A1 MUTATION
Associated Disease
aromatase excess syndrome
Source Database
DisGeNET
Description
Recently, several germline rearrangements at 15q21 have been shown to cause overexpression of the aromatase gene CYP19A1 and resulting aromatase excess syndrome.
Pubmed
23625277
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
2
Original source reporting the Gene Disease association
BeFree,GAD,MGD,ORPHANET
DisGENET score for the Gene Disease association
0.206710101931887
Drugs